This study examines pediatric cardiomyopathies by analyzing genetic and clinical data from 55 patients (2021–2024) at Beijing Anzhen Hospital. Four subtypes were studied: dilated (DCM, 24), hypertrophic (HCM, 22), arrhythmogenic right ventricular (ARVC, 7), and restrictive (RCM, 2). Clinical data, imaging, labs, and family histories were collected, with whole-exome sequencing (WES) identifying disease-causing variants classified via ACMG guidelines. Statistical analysis revealed a median age of 11 years, a proportion of 58% male participants, and ethnic diversity (21 northern Han, 29 southern Han, 5 minorities). In the cohort, 13 cases had an LVEF below 35%. Pathogenic/likely pathogenic (P/LP) variants were found in 21.8% of the patients, and variants of uncertain significance (VUS) were present in 38.2%, with MYH7 (seven cases) and MYBPC3 (five) being the most common. The WES positivity rates varied, at 58.3% (DCM), 72.7% (HCM), and 33.3% (ARVC/RCM). DCM patients with P/LP/VUS variants showed better contractile function (Fractional Shortening: 29.0% vs. 16.5%, p = 0.008). Females in the DCM group had poorer cardiac function (lower LVEF, higher LVESd, lower cardiac output) compared to males, with more females (nine vs. three) exhibiting an LVEF < 35% (p = 0.041). No significant gender differences were observed in the HCM cases. These findings highlight genotype–phenotype correlations and underscore the need for early intervention in female DCM patients.

Background Chest pain is a common complaint at pediatric cardiology clinics and often leads to an extensive cardiac evaluation. In this study, we analyzed the causes of chest pain in Chinese children and developed criteria for targeted myocardial enzyme testing.Methods We retrospectively analyzed the clinical data of patients aged below 18 years visiting our hospital for chest pain between 2005 and 2019. Based on auxiliary exams and clinical diagnosis, we analyzed the positive rate of myocardial enzyme testing in identifying the causes of chest pain in children.Results A total of 7251 children were included in this study. The chest pain was of cardiac origin in 581 patients (8.0%). The incidence of noncardiac chest pain was significantly higher in the preschool group and the school-age group than in the adolescent group (93.5% vs 93.8% vs 90.3%, P < 0.05). Among children with cardiac chest pain, the most common concomitant symptom was chest tightness (67.0%). Myocardial enzyme testing was performed in 5408 patients and was abnormal in 453 (8.4%) patients.Conclusions In children, chest pain is mostly benign and rarely cardiac. During diagnosis, targeted myocardial enzyme testing based on medical history and physical examination can effectively reduce resource use.